Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

Diabetes - 1 Apr 2011

Rubio-Cabezas Oscar, Jensen Jan N, Hodgson Maria I, Codner Ethel, Ellard Sian, Serup Palle, Hattersley Andrew T

Abstract excerpt

OBJECTIVE: NEUROG3 plays a central role in the development of both pancreatic islets and enteroendocrine cells. Homozygous hypomorphic missense mutations in NEUROG3 have been recently associated with a rare form of congenital malabsorptive diarrhea secondary to enteroendocrine cell dysgenesis. Interestingly, the patients did not develop neonatal diabetes but childhood-onset diabetes. We hypothesized that null...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basic Helix-Loop-Helix Transcription Factors
Share to Chick Embryo

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus

Share to Electroporation

Share to Infant, Newborn

Share to Nerve Tissue Proteins

Share to Point Mutation

Share to Protein Isoforms

Source

Open in PubMed Open full text

Identifiers

PMID: 21378176
DOI: 10.2337/db10-1008
PMCID: PMC3064109

Genes

NEUROG3
NEUROD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.PMID 21378176Read ↗

Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.Semantic proximity Read ↗

Mutant Neurogenin-3 in Congenital Malabsorptive DiarrheaSemantic proximity Read ↗

Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.Semantic proximity Read ↗

Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.Semantic proximity Read ↗

A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3.Semantic proximity Read ↗

Severe NEUROG3 mutation underlies pancreatic endocrine and exocrine insufficiencySemantic proximity Read ↗

A Comprehensive Structure-Function Study of Neurogenin3 Disease-Causing Alleles during Human Pancreas and Intestinal Organoid DevelopmentSemantic proximity Read ↗

An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.Semantic proximity Read ↗

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.Semantic proximity Read ↗

The Basic Helix-Loop-Helix Transcription Factor NEUROG3 Is Required for Development of the Human Endocrine Pancreas.Semantic proximity Read ↗

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.Semantic proximity Read ↗

Variants of neurogenin 3 gene are not associated with Type II diabetes in Japanese subjects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.